中文摘要：

目的：调查广东省佛山市南海区育龄人群中α-和β-地中海贫血（地贫）的基因携带率、基因突变类型及其分布特征。方法：于2009年1月1日～2010年4月30日,在南海区计划生育服务站,连续采集参加孕前优生健康检查的11642例新婚待孕夫妇的外周静脉血。以平均红细胞体积（MCV）〈80fl为地贫筛查血液学阳性指征。对筛查出的1399例阳性样品进一步进行α珠蛋白基因和β珠蛋白基因型分析。结果：育龄人群中地贫基因总携带率为9.91%,其中α-地贫基因携带率为6.45%,β-地贫基因携带率为3.46%,α-和β-地贫基因双重杂合子检出率为0.33%;检出3种缺失型α-地贫基因的构成比依次为77.60%（-SEA）、15.02%（-α3.7）、7.38%（-α4.2）;检出β-地贫基因突变类型11种,基因频率排在前5位的依次为CD41-42（-TTCT,38.21%）、IVS-Ⅱ-654（C→T,22.83%）、-28（A→G,10.17%）、CD17（A→T,4.71%）、CD43（G→T,4.71%）,占突变基因的91.07%。结论：本研究描述了佛山市南海区育龄人群常见的α-和β-地贫的发生率和较为详细的基因突变谱,为在本地区人群地贫防治提供依据。

英文摘要：

Objective：To investigate gene carrier rates,mutation types and distribution characteristics of α-thalassemia and β-thalassemia among the newlyweds at reproductive age in Nanhai district of Foshan City. Methods：Peripheral venous blood samples were collected from 11 642 newlyweds. Less than 80fl of mean corpuscular volume （MCV） was used as the positive indicator for screening thalassemia. A total of 1 399 samples of identified subjects with positive α-thalassemia and β-thalassemia phenotypes were detected by molecular biological technique for further analysis. Results：A total frequency of thalassemia gene was 9.91%,6.45% for α-thalassemia,3.46% for β-thalassemia and 0.33% for β-thalassemia combining deletional α-thalassemia. The three prioritized types of deletional α-thalassemia were as followings：77.60% （--SEA）,15.02% （-α3.7）and 7.38%（-α4.2）,respectively. Eleven types of β-thalassemia mutation were detected and the five prioritized gene mutations in terms of gene frequency were as followings：CD41-42 （-TTCT）（38.21%）,IVS-Ⅱ-654 （C→T）（22.83%）,-28（A→G）（10.17%）,CD17（A→T）（4.71%）and CD43（G→T）（4.71%）,with a total frequency of 91.07%. Conclusion：This study shows incidence and mutation rates of α-thalassemia and β-thalassemia among the newlyweds at reproductive age,which provides a basis for prevention of thalassemia.